ClinVar Miner

Submissions for variant NM_000360.4(TH):c.259T>C (p.Ser87Pro)

dbSNP: rs1846199834
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302025 SCV001491213 uncertain significance Autosomal recessive DOPA responsive dystonia 2022-03-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 118 of the TH protein (p.Ser118Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of primary dystonia (Invitae). ClinVar contains an entry for this variant (Variation ID: 1005190). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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